Some defects stated in the literature are ventricular septal defects, atrial defects, Fallot tetralogy, double outlet right ventricle, atrioventricular canal defect, aorto pulmonary window, and a vascular ring. Cardiac anomalies include a broad spectrum ranging from minor defects to severe structural defects incompatible with life. Anorectal anomalies consist of anal atresia (or imperforate anus), and in most cases, genitourinary anomalies are associated with most patients. Vertebral anomalies include hemivertebrae, dysplastic vertebrae (such as “butterfly vertebrae”, “wedge vertebrae”), vertebral fusions, and supernumerary or absent vertebrae, congenital scoliosis, caudal regression, spina bifida. Genetic risk factors include different genes mutations or chromosomal anomalies such as deletions of 5q11.2, 6q7q35qter, distal 13q and 20q13.33, duplication of 9q and 22q11.21, supernumerary der (22) syndrome, mosaicism for supernumerary ring chromosome 12 or 18 and partial monosomy 16p13.3pter/partial trisomy 16q22qter. Maternal risk factors that play a role are maternal diabetes, assisted reproductive techniques, or chronic lower obstructive pulmonary disorders. There are different risk factors in the etiology of VACTERL association, such as genetic or maternal risk factors. There is no evidence for increased prevalence in different regional areas or specific ethnic populations. Some studies affirmed that the condition is more frequent in males. The frequency is estimated to be about 1 in 10000 to 1 in 40000 live-born infants, depending on exact criteria used in different cohorts and studies. Although there are no well-accepted strict diagnostic criteria, at least three features in each category are necessary for the clinical diagnosis, without other phenotypic or genetic characteristics of an alternative diagnosis. VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies.
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